Isaac’s PMG Story

Hi, Jenny here. I am Isaac’s mom, advocate, and biggest fan. Isaac was born on 7/28/2020 amid the mayhem of Covid-19. He was a perfect baby and had no prenatal or delivery complications. We struggled with infertility for years before we were blessed with our miracle baby. I conceived Isaac just two months after a major Ovarian Wedge Resection surgery to correct PCOS.

Isaac’s PMG journey started on 11/11/2020 when he had his first seizure at three months of age. After an Emergency Room visit and overnight stay at our local hospital, Isaac was referred to our state’s Children’s Hospital for a full work up. We were in the hospital with Isaac for about a week doing an array of testing including lab work, full body X-rays, Ultrasounds, MRI, Lumbar Puncture, and genetic testing. I will never forget the moment the doctor walked into the room to go over his MRI results. She took the dry erase marker and started writing the longest, scariest word I have ever read. Polymicrogyria. She showed us the MRI and explained the brain malformation, but my world was spinning, and it was like a cliche out-of-body experience. How could there be anything wrong with something so perfect? I remember asking the hard questions while choking back tears; was he going to die? What is the life expectancy for this condition? How did this happen? Did I do something wrong when I was pregnant to cause this? Would he walk and talk? The doctor navigated us through the talk of the wide varying spectrums of outcomes and tried her best to ease our hearts and minds. I immediately started Googling once the doctor left which, as anyone knows, is a huge no-no.

While admitted for our PMG diagnosis, Isaac was actively having clusters of seizures around the clock. Ultimately, Isaac was also diagnosed with a devasting form of pediatric epilepsy called Infantile Spasms or West Syndrome. His brain was in a constant state of chaos. The treatment options for this type of epilepsy are limited and risky. There are (or were at the time) two frontline medications for treatment: Vigabatrin and ACTH Injections. Both needed preauthorization through insurance as they were both thousands and thousands of dollars. It took us much longer than acceptable to start the war on Infantile Spasms because of clerical errors and the red tape battle of preauthorization. We started Vigabatrin despite the risk of vision damage, but it didn’t work for us. We were admitted in January 2021 for another ten days for the initiation of the ACTH injections. We had to give our tiny baby 2 shots a day in his chunky thighs. The side effects of the ACTH injections were scary high blood pressure, which we did have on multiple occasions. The shots worked while he was on them, but it is not a long-term treatment, and the IS came back immediately upon the initiation of the taper.

The next line of defense we were directed towards was the ketogenic diet for epilepsy. We were admitted yet again in February 2021 for 10 days for the initiation. Isaac was put on a ketogenic formula and supplements. His blood sugar was monitored closely, and we were sent home with urine test strips to monitor his ketosis. The ketogenic diet has been used in the treatment of epilepsy for hundreds of years but became popular again when the diet fad came back around. We were told Isaac would need to be on the diet for 2-3 months before we would know if it would help treat the spasms. In the meantime, the Infantile Spasms got worse and resulted in low oxygen alarms/blue lips during his clusters. He also became very sick due to metabolic acidosis caused by the diet. At this point, we were 4 months into the utter hell that began 11/11/20. My mama heart couldn’t take it anymore, so we drove three hours to the Children’s Hospital Emergency Room. The lack of concern in the Emergency Room prompted the mama bear in me to act and resulted in a referral to an Out-of-State Children’s Hospital for a second opinion.

In late March 2021, we were admitted to Kansas City Children’s Mercy Hospital for another 10- day admission. The Infantile Spasms were so bad at this point, that rescue medication was needed on more than once occasion during the admission. Because Isaac was so sedated from the medication, he was unable to eat/drink anything. This put him at a very serious risk of becoming acidotic again. The team at KC Mercy recommended the surgical placement of a gastrostomy tube/G-Button. For Joseph and I, this came out of left field and we were not prepared to send our baby into surgery, but we did. The G-button surgery was a success and had been a Godsend looking back. The KC Mercy team includes a phenomenal ketogenic dietician program that helped us learn more and do better with monitoring the diet. During the same initial admission in Kansas City, we started a new medication to try and treat the ongoing IS. We tried Prednisolone and, like the ACTH injections, it worked until he stopped taking it.

A very important part of this journey I haven’t mentioned yet is the solidarity and hope I had access to through Facebook support groups. I joined an Infantile Spasms group and a Polymicrogyria group soon after diagnosis. It was through the IS support group that I read of success in treatment of IS using a combination therapy of Vigabatrin and Prednisolone. When the Prednisolone failed on its own, I asked our Epileptologist about trying the combination therapy. He was agreeable.

On 5/29/21, on the first day of the initiation of the combination Vigabatrin/Prednisolone, we witnessed our LAST cluster of Infantile Spasms. Praise Jesus!! The Infantile Spasms and medications caused Isaac to essentially lose all development, so at 10 months of age, we had to start over as if he were a newborn. He was incredibly low tone, could not hold his head up, roll over, sit up, anything like that.

We enrolled Isaac in PT/OT/ST and Early Intervention through the school district back when Isaac was 4 months old, but until the seizures were stopped, we couldn’t make too much progress.

Isaac has made slow and steady progress over the past 3 years. He eventually held his head up during tummy time. He eventually rolled over. He eventually sat up on his own! He eventually pulled himself to standing. He took steps in a gait trainer. Things we never knew he could or would ever do… he did them…over and over, surprising us every step along the way.

Isaac will be 4 years old next month. He is going into his second year of preschool. His classmates adore him. Everyone who knows him adores him. He uses a gait trainer (and loves it) and is very close to walking independently.  He is funny, expressive, and has the best personality. He knows some sign language (more, please, eat). He loves music, instruments, and songs. He loves watching the local weather and news on TV. He is obsessed with Miss Rachel and Songs for Littles on YouTube. He understands so much more than what we give him credit for.

Isaac is still severely delayed and continues to attend PT/OT/ST twice weekly. He has an in-
home nurse that is, for a lack of a better word, our hero. She prepares his special ketogenic
meals, works on therapy with him, and does so much more. Isaac is a joy and inspiration to our
family and community. It amazes me to be able to share this progress and joyful journey despite
how dark and miserable it was in the beginning.

If I could tell a newly diagnosed mother/family anything, it would be to trust your gut, learn to be an advocate, and maintain hope that better days are coming. In the beginning, not even the most knowledgeable local pediatrician identified Infantile Spasms and brushed it off at reflux or normal newborn movements. I trusted my gut and persisted. To be an advocate, you must educate yourself and research on your own. Ask the questions, keep digging. Get a second opinion. Be willing to do whatever it takes to get the best possible outcome. Get connected to other families at the same stage you are in. The hardest part is clinging to hope. With the wide spectrum of outcomes, you cannot compare your child to any other. Just don’t do it! So many layers contribute to the outcome and each journey and child is unique. Navigating the dark unknown is lonely and infuriating. Please hang in there. Your baby needs you.